National PKU Awareness Month

PKU (phenylketonuria) is an inborn metabolic disorder. People with PKU lack a specific enzyme, phenylalanine hydroxylase (PAH), and are unable to metabolize the amino acid phenylalanine (phe).

Phe is found in foods with protein. Eating too much protein causes phe to build up in the brain, and in very young children can cause profound mental disability. In older children and adults, it can cause behavioral disorders, tremors and cognitive impairment.

In order to keep blood phe levels low, those with PKU must remain on a protein-restricted diet for life. Because the body requires protein, in conjunction with the low-protein diet, those with PKU must take an amino acid supplement which provides the amino acids that make up protein minus phe.

For many with PKU, this diet is severely restrictive and requires that they purchase expensive specialty low-protein pastas, breads and meat substitutes. These specialty foods and often the amino acid supplements are rarely covered by insurance and laws requiring provision of these medical necessities vary widely from state to state.

In recent years, there have been some advances in treatment, leading to the development of a medication called Kuvan, a synthetic enzyme co-factor, which can increase the body's ability to metabolize phe. However, Kuvan only works on a subset of the total population of those with PKU, which, incidentally amounts to 1 in 15000 births in the United States each year. Another treatment being developed is called PEG-PAL, which would be an enzyme replacement therapy, and if successful and safe should eliminate all dietary restrictions for those with PKU.


For more information:
National PKU Alliance: http://www.npkua.org/
National PKU News: http://www.pkunews.org/
PKU Organization of Illinois: http://www.pkuil.org/